Canonical Allele Identifier: CA2261182850

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007735T= , CM000679.2:g.44007735T= GRCh38
NC_000017.10:g.42085103T= , CM000679.1:g.42085103T= GRCh37
NC_000017.9:g.39440629T= NCBI36
NG_008106.1:g.8072T=
NG_023338.1:g.1735A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1413T= (NAGS) MANE Select ENSP00000293404.2:p.Leu471=
ENST00000293404.7:c.1413T= (NAGS) ENSP00000293404.2:p.Leu471=
ENST00000589767.1:c.1344T= (NAGS) ENSP00000465408.1:p.Leu448=
ENST00000592915.1:n.1301T= (NAGS)
NM_153006.2:c.1413T= (NAGS) NP_694551.1:p.Leu471=
XM_011524438.1:c.1268+241T= (NAGS) XP_011522740.1:n.1268+241T=
XM_011524439.1:c.915T= (NAGS) XP_011522741.1:p.Leu305=
XM_011525035.1:c.-463+15837A= (PYY) XP_011523337.1:n.-463+15837A=
XM_011524439.2:c.915T= (NAGS) XP_011522741.1:p.Leu305=
NM_153006.3:c.1413T= (NAGS) MANE Select NP_694551.1:p.Leu471=